Lymphoproliférative disease related to X

The lymphoproliférative disease related to X is a genetic disease in connection with a change of the gene SH2D1A responsible for three Phénotype S:

At a boy, an inappropriate immunizing response of the organization with an infection with Virus of Epstein-Barr with proliferation of the cytotoxic cells T and the Macrophage S responsible for a mortality of 90% of the individuals often reached by acute hepatic Insufficiency. In a third of the cases, the reduction in the synthesis of immunoglobulins is diagnosed before an infection with Epstein-Barr. The regular immunoglobulin G injection makes it possible to avoid this complication.
an anomaly of the synthesis of gamma globulines.
an unusual proliferation of the lymphocytes B.

The appearance of lymphoma, particularly with high rank or type not hodgkien with often intestinal localization, occurs in a third of the individuals carrying this pathology.

The only treatment is the transplantation of allogenic osseous marrow as soon as possible.

Sources

Janos Sumegi, Judith Johnson, Alexandra Filipovich, Kejian Zhang, Lymphoproliferative Disease, X-Linked In GeneTests: Medical Genetics Information Resource (database online). Copyright, University off Washington, Seattle. 1993-2005

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